Familial spastic paraplegia, mental retardation, and precocious puberty

Arch Neurol. 1983 Dec;40(13):809-10. doi: 10.1001/archneur.1983.04050120059008.

Abstract

Two brothers had progressive spastic paraplegia and precocious puberty develop due to Leydig's cell hyperplasia when they were 2 years old. Both later had moderate mental retardation. Family members displayed brisk lower-extremity reflexes and dysarthria in a pedigree that suggested autosomal dominant inheritance with variable expression. Precocious puberty has been associated with other neurologic syndromes. Its occurrence in two brothers with spastic paraplegia has not, to our knowledge, been previously reported.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Muscle Spasticity / genetics*
  • Paraplegia / genetics*
  • Pedigree
  • Puberty, Precocious / genetics*